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Article

Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family.

Medicine - 1 Dec 2019

Lan Xinqiang, Sun Shiyu, Lan Xin, Niu Linyuan, Zhang Chunxiao, Chen Xiaoli, Xia Ningning

Abstract excerpt

RATIONALE: Molecular mechanism underlying the autosomal recessive non-syndromic hearing loss (ARNSHL) is still plausible. Pathogenic mutations of the gap junction beta 2 protein (GJB2) are reported to be the primary causes of ARNSHL. PATIENT CONCERNS: A propositus was diagnosed as ARNSHL with bilateral congenital profound hearing loss. DIAGNOSIS: With microarray and target gene sequencing testing methods, a novel...

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Identifiers

PMID: 31852093
DOI: 10.1097/MD.0000000000018253
PMCID: PMC6922571

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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